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EP1164203A3 - DNA Diagnostics based on mass spectrometry - Google Patents

DNA Diagnostics based on mass spectrometry Download PDF

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Publication number
EP1164203A3
EP1164203A3 EP01203019A EP01203019A EP1164203A3 EP 1164203 A3 EP1164203 A3 EP 1164203A3 EP 01203019 A EP01203019 A EP 01203019A EP 01203019 A EP01203019 A EP 01203019A EP 1164203 A3 EP1164203 A3 EP 1164203A3
Authority
EP
European Patent Office
Prior art keywords
mass spectrometry
diagnostics based
dna diagnostics
disease
sequence
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Granted
Application number
EP01203019A
Other languages
German (de)
French (fr)
Other versions
EP1164203B1 (en
EP1164203A2 (en
Inventor
Hubert KÖSTER
Daniel P. Little
Andreas Braun
Christian Jurinke
Dirk Van Den Boom
Guobing Xiang
David M. Lough
Andreas Ruppert
Franz Hillenkamp
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Sequenom Inc
Original Assignee
Sequenom Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Priority claimed from US08/744,481 external-priority patent/US6428955B1/en
Priority claimed from US08/744,590 external-priority patent/US6074823A/en
Priority claimed from US08/746,036 external-priority patent/US5900481A/en
Priority claimed from US08/786,988 external-priority patent/US7285422B1/en
Priority claimed from US08/787,639 external-priority patent/US6024925A/en
Priority claimed from US08/933,792 external-priority patent/US6133436A/en
Application filed by Sequenom Inc filed Critical Sequenom Inc
Publication of EP1164203A2 publication Critical patent/EP1164203A2/en
Publication of EP1164203A3 publication Critical patent/EP1164203A3/en
Publication of EP1164203B1 publication Critical patent/EP1164203B1/en
Application granted granted Critical
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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    • B01—PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
    • B01L—CHEMICAL OR PHYSICAL LABORATORY APPARATUS FOR GENERAL USE
    • B01L3/00—Containers or dishes for laboratory use, e.g. laboratory glassware; Droppers
    • B01L3/02—Burettes; Pipettes
    • B01L3/0241—Drop counters; Drop formers
    • B01L3/0268—Drop counters; Drop formers using pulse dispensing or spraying, eg. inkjet type, piezo actuated ejection of droplets from capillaries
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    • B01J19/00—Chemical, physical or physico-chemical processes in general; Their relevant apparatus
    • B01J19/0046—Sequential or parallel reactions, e.g. for the synthesis of polypeptides or polynucleotides; Apparatus and devices for combinatorial chemistry or for making molecular arrays
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    • C07F9/06—Phosphorus compounds without P—C bonds
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    • C07F9/24—Esteramides
    • C07F9/2404—Esteramides the ester moiety containing a substituent or a structure which is considered as characteristic
    • C07F9/2408—Esteramides the ester moiety containing a substituent or a structure which is considered as characteristic of hydroxyalkyl compounds
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    • C07F9/2429—Esteramides the ester moiety containing a substituent or a structure which is considered as characteristic of arylalkanols
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07H—SUGARS; DERIVATIVES THEREOF; NUCLEOSIDES; NUCLEOTIDES; NUCLEIC ACIDS
    • C07H21/00—Compounds containing two or more mononucleotide units having separate phosphate or polyphosphate groups linked by saccharide radicals of nucleoside groups, e.g. nucleic acids
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    • B01J2219/00274—Sequential or parallel reactions; Apparatus and devices for combinatorial chemistry or for making arrays; Chemical library technology
    • B01J2219/00718—Type of compounds synthesised
    • B01J2219/0072—Organic compounds
    • B—PERFORMING OPERATIONS; TRANSPORTING
    • B01—PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
    • B01J—CHEMICAL OR PHYSICAL PROCESSES, e.g. CATALYSIS OR COLLOID CHEMISTRY; THEIR RELEVANT APPARATUS
    • B01J2219/00—Chemical, physical or physico-chemical processes in general; Their relevant apparatus
    • B01J2219/00274—Sequential or parallel reactions; Apparatus and devices for combinatorial chemistry or for making arrays; Chemical library technology
    • B01J2219/00718—Type of compounds synthesised
    • B01J2219/0072—Organic compounds
    • B01J2219/00722—Nucleotides
    • B—PERFORMING OPERATIONS; TRANSPORTING
    • B01—PHYSICAL OR CHEMICAL PROCESSES OR APPARATUS IN GENERAL
    • B01J—CHEMICAL OR PHYSICAL PROCESSES, e.g. CATALYSIS OR COLLOID CHEMISTRY; THEIR RELEVANT APPARATUS
    • B01J2219/00—Chemical, physical or physico-chemical processes in general; Their relevant apparatus
    • B01J2219/00274—Sequential or parallel reactions; Apparatus and devices for combinatorial chemistry or for making arrays; Chemical library technology
    • B01J2219/00718—Type of compounds synthesised
    • B01J2219/0072—Organic compounds
    • B01J2219/00725—Peptides
    • C—CHEMISTRY; METALLURGY
    • C07—ORGANIC CHEMISTRY
    • C07B—GENERAL METHODS OF ORGANIC CHEMISTRY; APPARATUS THEREFOR
    • C07B2200/00—Indexing scheme relating to specific properties of organic compounds
    • C07B2200/11—Compounds covalently bound to a solid support
    • C—CHEMISTRY; METALLURGY
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B40/00—Libraries per se, e.g. arrays, mixtures
    • C40B40/04—Libraries containing only organic compounds
    • C40B40/06—Libraries containing nucleotides or polynucleotides, or derivatives thereof
    • C—CHEMISTRY; METALLURGY
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B40/00—Libraries per se, e.g. arrays, mixtures
    • C40B40/04—Libraries containing only organic compounds
    • C40B40/10—Libraries containing peptides or polypeptides, or derivatives thereof
    • C—CHEMISTRY; METALLURGY
    • C40—COMBINATORIAL TECHNOLOGY
    • C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
    • C40B60/00—Apparatus specially adapted for use in combinatorial chemistry or with libraries
    • C40B60/14—Apparatus specially adapted for use in combinatorial chemistry or with libraries for creating libraries
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N35/00—Automatic analysis not limited to methods or materials provided for in any single one of groups G01N1/00 - G01N33/00; Handling materials therefor
    • G01N2035/00178—Special arrangements of analysers
    • G01N2035/00237—Handling microquantities of analyte, e.g. microvalves, capillary networks
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N35/00—Automatic analysis not limited to methods or materials provided for in any single one of groups G01N1/00 - G01N33/00; Handling materials therefor
    • G01N35/10—Devices for transferring samples or any liquids to, in, or from, the analysis apparatus, e.g. suction devices, injection devices
    • G01N2035/1027—General features of the devices
    • G01N2035/1034—Transferring microquantities of liquid
    • G01N2035/1037—Using surface tension, e.g. pins or wires
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N35/00—Automatic analysis not limited to methods or materials provided for in any single one of groups G01N1/00 - G01N33/00; Handling materials therefor
    • G01N35/10—Devices for transferring samples or any liquids to, in, or from, the analysis apparatus, e.g. suction devices, injection devices
    • G01N35/1065—Multiple transfer devices
    • G01N35/1067—Multiple transfer devices for transfer to or from containers having different spacing
    • G01N2035/1069—Multiple transfer devices for transfer to or from containers having different spacing by adjusting the spacing between multiple probes of a single transferring head
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N35/00—Automatic analysis not limited to methods or materials provided for in any single one of groups G01N1/00 - G01N33/00; Handling materials therefor
    • G01N35/10—Devices for transferring samples or any liquids to, in, or from, the analysis apparatus, e.g. suction devices, injection devices
    • G01N35/1065—Multiple transfer devices
    • G01N35/1074—Multiple transfer devices arranged in a two-dimensional array
    • H—ELECTRICITY
    • H01—ELECTRIC ELEMENTS
    • H01J—ELECTRIC DISCHARGE TUBES OR DISCHARGE LAMPS
    • H01J49/00—Particle spectrometers or separator tubes

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  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Biochemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Wood Science & Technology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Immunology (AREA)
  • Genetics & Genomics (AREA)
  • Analytical Chemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Microbiology (AREA)
  • Clinical Laboratory Science (AREA)
  • General Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Other Investigation Or Analysis Of Materials By Electrical Means (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Saccharide Compounds (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)

Abstract

Fast and highly accurate mass spectrometry-based processes for detecting a particular nucleic acid sequence in a biological sample are provided. Depending on the sequence to be detected, the processed can be used, for example, to diagnose a genetic disease or chromosomal abnormality; a predisposition to a disease or condition, infection by a pathogenic organism, or for determining identity or heredity.
EP01203019A 1996-11-06 1997-11-06 DNA Diagnostics based on mass spectrometry Expired - Lifetime EP1164203B1 (en)

Applications Claiming Priority (17)

Application Number Priority Date Filing Date Title
US746036 1991-08-16
US74605596A 1996-11-06 1996-11-06
US08/744,481 US6428955B1 (en) 1995-03-17 1996-11-06 DNA diagnostics based on mass spectrometry
US08/746,036 US5900481A (en) 1996-11-06 1996-11-06 Bead linkers for immobilizing nucleic acids to solid supports
US746055 1996-11-06
US744481 1996-11-06
US08/744,590 US6074823A (en) 1993-03-19 1996-11-06 DNA sequencing by mass spectrometry via exonuclease degradation
US744590 1996-11-06
US08/787,639 US6024925A (en) 1997-01-23 1997-01-23 Systems and methods for preparing low volume analyte array elements
US08/786,988 US7285422B1 (en) 1997-01-23 1997-01-23 Systems and methods for preparing and analyzing low volume analyte array elements
US786988 1997-01-23
US787639 1997-01-23
US933792 1997-09-19
US08/933,792 US6133436A (en) 1996-11-06 1997-09-19 Beads bound to a solid support and to nucleic acids
US94780197A 1997-10-08 1997-10-08
US947801 1997-10-08
EP97945641A EP0954612A2 (en) 1996-11-06 1997-11-06 Dna diagnostics based on mass spectrometry

Related Parent Applications (1)

Application Number Title Priority Date Filing Date
EP97945641A Division EP0954612A2 (en) 1996-11-06 1997-11-06 Dna diagnostics based on mass spectrometry

Publications (3)

Publication Number Publication Date
EP1164203A2 EP1164203A2 (en) 2001-12-19
EP1164203A3 true EP1164203A3 (en) 2002-03-13
EP1164203B1 EP1164203B1 (en) 2007-10-10

Family

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EP97945641A Withdrawn EP0954612A2 (en) 1996-11-06 1997-11-06 Dna diagnostics based on mass spectrometry
EP01203019A Expired - Lifetime EP1164203B1 (en) 1996-11-06 1997-11-06 DNA Diagnostics based on mass spectrometry

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Application Number Title Priority Date Filing Date
EP97945641A Withdrawn EP0954612A2 (en) 1996-11-06 1997-11-06 Dna diagnostics based on mass spectrometry

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US (5) US20030129589A1 (en)
EP (2) EP0954612A2 (en)
AT (1) ATE375403T1 (en)
AU (1) AU735416B2 (en)
CA (1) CA2270132A1 (en)
DE (2) DE69738206T2 (en)
HK (1) HK1043158A1 (en)
NO (1) NO992168L (en)
WO (1) WO1998020166A2 (en)

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